OBO ID: DOID:0111553 |
Term Name: | spondyloepiphyseal dysplasia Maroteaux type | Search Ontology: | |
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Definition: | An osteochondrodysplasia characterized by dysplastic epiphyses, short stature appearing in infancy, short neck, short and stubby hands and feet, platyspondyly, severe brachydactyly, and pelvic abnormalities that has_material_basis_in heterozygous mutation in the TRPV4 gene on chromosome 12q24.11. (2) | ||
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Ontology: | Human Disease ( DOID:0111553 ) |
OTHER spondyloepiphyseal dysplasia Maroteaux type PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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